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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Exons 1–3 deletion in FLCN is associated with increased risk of pneumothorax in Chinese patients with Birt-Hogg-Dubé syndrome

Fig. 2

The results of identification of FLCN intragenic deletion in BHDS patients. A The electrophoretogram by MLPA on the left shows that the patient (F14-3) has a loss of heterozygosity in exon 1, 2 and 3 (in red); PCR products of junction fragments were separated by 2% agarose gel electrophoresis on the right. The characters and numbers above the lanes corresponded to the subjects (P1-P4) and controls (C1-C2). B and C The electrophoretogram and DNA sequence analysis of breakpoint junction show the 7,543 bp deletion mediated by the microhomology (blue bold bases in C) in Alu repeats (Alu SZ and Alu SC indicated by blue rectangular box in Fig. 2B and blue bases in C) span the exon 1 to 3 (E1-E3) of FLCN gene. The black arrows indicate the position of the primer for amplification of breakpoint junction in B

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